V105I (p.Val105Ile) variant of ATP13A2 (Q9NQ11)
V105I (p.Val105Ile) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- gnomAD rs1190667301
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.22
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available